We called the cardio office and explained Cam had a new diagnosis and would need an echo. Well, our cardio didn't think that he could be wrong about a patient and put a full stop on his chart that prevented anyone from scheduling an echo for us. The report stated, "I have evaluated this patient and even with the new diagnosis there is no reason to do an echo." I spent over two weeks on countless phone calls trying to find a way around it. Finally, we were back at the genetic's office and we told him of the trouble we were having getting an echo scheduled. He couldn't believe it...(I honestly still can't believe it!). He walked us over the the cardiology dept. of Primary Children's Hospital and demanded the appt. be made immediately.
A week later Cam was getting his echo. They found 3 heart defects in my little guys "perfectly healthy heart". I was devastated.
1. Small secundum atrial septal defect....a small hole in the top of his heart.
2. There is a trivial patent ductus arteriosus....leftover fetal tissue.
3. Aortic root mildly dilated.....seen in a lot of PVNH patients.
The first 2 defects shouldn't cause him any problems through out his life. The aortic root was mildly dilated, this is potentially life threatening and needs to be monitored through out his life. They give it a Z score. It is the size of dilation in ratio to their body size. His Z score the first time was 3.2.
We scheduled a yearly follow up and then next time Cam had his echo it had gotten smaller. A Z score of 2.4. Our new cardiologist was pleased with it's progress and said we should be good to monitor his heart every 2 years. I mentally had checked his heart off my worry list. I knew it could be a problem but they assured me that it was going to be fine. I have spent my research and worry energy on his kidney, learning disabilities, speech, immunity issues, and his over-all health.
Curtis and I have been on a Cobra insurance plan and it ends at the end of June. I lined up all of Cam's specialist for the year between April and July so that we would be fine to switch insurances in July. (Still working out that plan!)
In May we had his echo and Cardio appt. I didn't even make Curtis go with me, because I was so sure that his heart was fine. Well after the echo the Doctor came in with some bad news. The scan over a year ago had been off and the measurement was wrong. It had not gotten smaller. In fact, it has gotten bigger. The Z score is now at 3.7. The cardiologist was confused about this defect. This certain defect is rare and doesn't occur in 22q patients. I hadn't done a ton of research on it so I didn't have any extra info I could give him about PVNH patients. The crazy thing about having kids with rare syndromes, or rare diseases is that the parents end up being the researcher, doctor, therapist, specialist, educator...the list goes on. So without any research to add I left the cardio office feeling anxious and sad.
I came home and immediately put out a message on my awesome support group page for PVNH. The info and medical articles started pouring in. Apparently PVNH can also be linked with Ehlers-Danlos Syndrome (EDS). This is another rare disease that is a connective tissue disorder. It has a lot of different symptoms and can be very mild to very severe. Patients tend to have stretchy skin and low muscle tone as well as several other things. The more severe cases have stretchy veins and an aortic root dilation. This can be very dangerous. If it isn't monitored and repaired if needed the aortic root can actually tear and the patient has an aortic aneurysm and can die in just minutes. The patients need to be monitored much more regularly because it is a progressive heart defect. I called the cardiologist and let him know about the link between PVNH and EDS. Cam will now be monitored every 6 months by the cardio as well as have an echo.
The other concern with this problem is having high blood pressure would cause the dilation to tear much more quickly. Having only 1 kidney Cam is at high risk for high blood pressure. His kidney and heart both would be critically damaged if Cam is in a situation that his blood pressure is too high.
I am trying to digest this new information. It has been really upsetting, but I am so grateful for the medical team I have for Cam. I am grateful to have amazing support groups that can link me to medical reports in a matter of minutes. I am so thankful to my Heavenly Father and for the blessing of having the Holy Ghost to guide us through this life. Having the spirit guide me as a mother is essential in all areas, especially when it comes to mothering and helping my special needs guys!
I am still researching the ways they can fix Cam's heart problem. The cardio said they usually discuss replacement options when the Z score is over 4. My hope and prayer is that Cam's dilation stays where it's at for a long time to come. We will do everything it takes to prevent, and protect Cam from having an aortic aneurysm. Life is so precious and fragile. I truly cherish every day I have with my sweet boy! I pray, I have a lifetime of days with him.